User profiles for Catherine Reeves

Catherine Reeves

New York Genome Center
Verified email at nygenome.org
Cited by 1408

Animation and the role of map design in scientific visualization

…, AM MacEachren, JB Krygier, C Reeves - Cartography and …, 1992 - Taylor & Francis
Scientists visualize data for a range of purposes, from exploring unfamiliar data sets to
communicating insights revealed by visual analyses. As the supply of numerical environmental …

Targeting renal cell carcinoma with a HIF-2 antagonist

…, H Zhang, J Chang, KH Gardner, RK Bruick, C Reeves… - Nature, 2016 - nature.com
Clear cell renal cell carcinoma (ccRCC) is characterized by inactivation of the von Hippel-Lindau
tumour suppressor gene (VHL) 1 , 2 . Because no other gene is mutated as frequently …

Mapping and characterization of structural variation in 17,795 human genomes

…, RM Layer, BM Neale, WJ Salerno, C Reeves… - Nature, 2020 - nature.com
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Detection of long repeat expansions from PCR-free whole-genome sequence data

…, EJ Neo, K Morrison, PJ Shaw, C Reeves… - Genome …, 2017 - genome.cshlp.org
Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…

PGBD5 promotes site-specific oncogenic mutations in human tumors

…, M Gönen, AK Emde, M Shah, K Arora, C Reeves… - Nature …, 2017 - nature.com
Genomic rearrangements are a hallmark of human cancers. Here, we identify the piggyBac
transposable element derived 5 (PGBD5) gene as encoding an active DNA transposase …

[HTML][HTML] Rates of contributory de novo mutation in high and low-risk autism families

…, P Andrews, S Marks, Z Wang, C Reeves… - Communications …, 2021 - nature.com
Autism arises in high and low-risk families. De novo mutation contributes to autism incidence
in low-risk families as there is a higher incidence in the affected of the simplex families than …

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Y Wang, R Busin, C Reeves, L Bezman… - Molecular genetics and …, 2011 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting
adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (…

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

…, WE Clarke, AO Basile, A Corvelo, CE Reeves… - medRxiv, 2024 - medrxiv.org
Less than half of individuals with a suspected Mendelian condition receive a precise molecular
diagnosis after comprehensive clinical genetic testing. Improvements in data quality and …

Design, implementation and evaluation of multimedia resources for geography and earth science education

JB Krygier, C Reeves, D DiBiase… - Journal of Geography in …, 1997 - Taylor & Francis
Geography and earth science educators are simultaneously faced with increasing scrutiny
of teaching, new educational standards and a plethora of new teaching methods such as …

Multivariate display of geographic data: Applications in earth system science

D DiBiase, C Reeves, J Krygier… - Visualization in …, 1994 - books.google.com
This chapter discusses methods for displaying three or more geographically referenced
data variables. In particular, we are concerned with methods appropriate for exploratory …